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Alpha-1 antitrypsin deficiency (AATD) is an inherited condition that causes AAT proteins, which protect the lungs and other organs, to get trapped in the liver. This increases risks of both lung and liver disease, and it can cause early-onset emphysema.
AATD occurs most often in white people of European descent, although it can occur in any ethnic group. Estimates of people with AATD range from about one in every 1,600 to about one in every 5,000. Because people with AATD don’t always develop serious complications, they might not even know they have it.
People with severe AATD can develop emphysema early in life (between ages 40 and 50). Emphysema causes a chronic cough, trouble breathing, and wheezing, which is why AATD is often misdiagnosed as asthma.
Other potential complications of AATD include cirrhosis and other liver diseases, often diagnosed in infancy and early childhood. Rarely, people with AATD can develop a painful skin disease called necrotizing panniculitis.
People with AATD are more susceptible to life-threatening lung diseases. Smoking and exposure to tobacco smoke are the most significant risk factors. Exposure to toxic substances, dust, and fumes are also risk factors.
|AAT Gene||Diagnosis||Serum AAT Levels:||Risk of Emphysema|
|SZ||AAT Deficient||8-16||75-120||Likely increased|
|ZZ||AAT Deficient||2.5-7||20-45||Definitely increased|
|Z-Null||AAT Deficient||Unknown||Unknown||Definitely increased|
|Null-Null||AAT Deficient||0||0||Definitely increased|
Alpha-1 augmentation therapy might be prescribed in severe cases to help slow a decline in lung function. Augmentation therapy is the infusion of an alpha-1 proteinase inhibitor (A1Pi) into the bloodstream. This can be administered safely at home with the help of a nurse. Diplomat Specialty Infusion Group offers multiple brands of A1Pi treatments—including Aralast®, Glassia®, and Zemaira®—and can provide qualified in-home nursing service.